Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.
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PMID:A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. 1748 72

Autoinflammatory syndromes are a distinct class of inherited diseases of cytokine dysregulation with important cutaneous features. Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1. These disorders are now believed to represent related conditions along a spectrum of disease severity, in which FCAS is the mildest and NOMID is the most severe phenotype. Patients typically present with lifelong atypical urticaria with systemic symptoms, with potential for developing end-organ damage due to chronic inflammation. Advances in the understanding of the genetic basis of these syndromes have also revealed cytokine signalling molecules that are critical to normal regulation of inflammatory pathways. The dramatic response of these syndromes to anakinra, an interleukin (IL)-1 antagonist, highlights the important role of IL-1 cytokine signalling in the pathogenesis of this rare but fascinating class of diseases.
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PMID:Cryopyrin-associated periodic syndromes and autoinflammation. 1792 85

Hereditary recurrent fevers are rare genetic diseases characterized by apparently spontaneous attacks of inflammation. They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). Musculoskeletal manifestations are common. They may occur as features of the acute inflammatory attacks or persist for longer periods. Among them, the most common include arthritis of the large and medium-sized joints in FMF and CINCA, arthralgia in HIDS, and myalgia or pseudo-fasciitis in TRAPS. The outcome is usually favorable, although joint destruction may develop in CINCA or at the hip in FMF. The recurrent bouts of fever and accompanying clinical manifestations suggest the diagnosis, which can be confirmed by genetic testing. Among differential diagnoses, infection should be considered routinely. The treatment of the inflammatory attacks is nonspecific. New pathophysiological insights have led to the development of promising maintenance treatments designed to reduce the number and severity of the inflammatory attacks and to diminish the risk of secondary amyloidosis.
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PMID:Auto inflammatory syndromes: Diagnosis and treatment. 1795 Jun 49

Over the past few years the field of innate immunity has undergone a revolution with the discovery of pattern recognition molecules (PRM) and their role in microbe detection. Among these molecules, the Nod-like receptors (NLRs) have emerged as key microbial sensors that participate in the global immune responses to pathogens and contribute to the resolution of infections. This growing group of proteins is divided into subfamilies with basis in their different signaling domains. Prominent among them are Nod1, Nod2, Nalp3, Ipaf, and Naip that have been shown to play important roles against intracellular bacteria. Furthermore, mutations in the genes that encode these proteins have been associated with complex inflammatory disorders including Crohn's disease, asthma, familial cold urticaria, Muckle-Wells syndrome, and Blau syndrome. In this review we will present the current knowledge on the role of these proteins in immunity and inflammatory diseases.
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PMID:Nod-like receptors in innate immunity and inflammatory diseases. 1803 61

Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding nonpruritic urticarial rash, with exacerbations coinciding with episodes of fever, arthritis, and enlarged lymph nodes. The findings of biopsy of skin lesions are extremely variable but characterized by perivascular neutrophilic infiltrate. With the discovery of mutations in the CIAS1 gene, which encodes a protein known as cryopyrin, this entity has been classified as one of the cryopyrin-associated autoinflammatory diseases, along with familial cold urticaria and Muckle-Wells syndrome. This discovery has also made available new therapeutic options. We present the case of a boy diagnosed with CINCA syndrome who presented with an outbreak of painful skin lesions and fever. These lesions were thought to be an exacerbation of underlying lesions during an episode of fever.
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PMID:[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) syndrome]. 1855 58

Autoinflammatory diseases are a group of monogenic inflammatory diseases with an early onset in childhood. Previously these diseases were summarized as"periodic fever syndromes." Included in this spectrum are familial Mediterranean fever, mevalonate kinase deficiency, and tumor necrosis factor receptor-associated disease. They are characterized by periodic or recurrent episodes of systemic inflammation causing fever, accompanied by rash, serositis, lymphadenopathy, arthritis, and other clinical manifestations. The other large group of autoinflammatory diseases consists of the cryopyrin-associated periodic syndromes, which include the cryopyrinopathies. The mildest form is familial cold-associated syndrome, a more severe form is Muckle-Wells syndrome, and the most severe is neonatal-onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome. These are characterized by chronic or recurrent systemic inflammation associated with various clinical presentations, including urticaria-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. In our review we focus on the clinical presentation of these diseases.
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PMID:[Autoinflammatory diseases in childhood]. 1984 24

Muckle Wells syndrome is an autoinflammatory disease in the group of cryopyrin associated periodic syndromes (CAPS). We report the case of an 8 year old girl with MWS who presented with remitting fever, urticaria, remitting coxitis, osteitis, bilateral uveitis anterior, elevated levels of C-reactive protein (CRP) and Serum amyloid A (SAA) and progressive sensoneurinal hearing loss. After starting treatment with anakinra, clinical symptoms dissolved almost completely for about two years now. CRP and SAA levels normalized quickly and sustained and as a consequence the risk of amyloidosis may be minimized. Notable is the complete recovery from sensoneurinal hearing loss merely two months after start of treatment. This brings up questions about pathophysiology of sensoneurinal hearing loss in MWS and emphasizes the benefits of an early diagnosis, as an early start of treatment possibly reduces long-term damage.
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PMID:[Improvement of sensoneurinal hearing loss in a patient with Muckle-Wells syndrome treated with anakinra]. 2013 84

The cryopyrin-associated syndromes (CAPS) include three autosomal-dominant syndromes, that are caused by a mutation in the NLRP3 gene on chromosome 1, encoding the cryopyrin protein. These syndromes, familial cold autoinflammatory syndrome, Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease, are characterized by urticaria-like rash, fever, central nervous system inflammation, an arthropathy and a risk of the development of amyloidosis in a respectively escalating degree of severity between the various syndromes. Recently the role of cryopyrin in the regulation of interleukin (IL)-1 production and activation was described and anti IL-1 therapies were found to be very effective in treating these syndromes. There are several types of anti IL-1 medications based on different mechanisms of antagonizing IL-1. This paper focuses on the efficacy and safety of canakinumab, a long-acting humanized anti IL-1 antibody, in treating these syndromes.
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PMID:Critical appraisal of canakinumab in the treatment of adults and children with cryopyrin-associated periodic syndrome (CAPS). 2053 65

Muckle-Wells syndrome is a rare autosomal dominant disease that belongs to a group of hereditary febrile syndromes. It is characterized by recurrent and self-limited episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis since childhood, which are related to exposure to cold temperatures. Lately, progressive sensorineural hearing loss occurs. Amyloidosis is the main complication and can be found in about 25% of the cases. It has been demonstrated that there is an association with mutations in the NLRP3 gene, which codifies cryopyrin, a protein responsible for regulating the production of proinflammatory cytokines, such as interleukin-1Beta. The authors report four cases of the disease within a family.
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PMID:Four cases of Muckle-Wells syndrome within the same family. 2130 20

Familial cold autoinflammatory syndrome (FCAS) and Muckle-Wells syndrome (MWS) belong to the cryopyrin-associated periodic syndromes (CAPS) with CIAS1 gene mutations as a common molecular basis. Patients with FCAS have the least severe clinical phenotype but are characterized by the development of symptoms induced by a generalized exposure to cold appearing during the first months of childhood. It is important to make differential diagnosis between FCAS and acquired cold urticaria (ACU) and familial atypical cold urticaria (FACU). Muckle-Wells syndrome is characterized by recurrent fever and urticarial rash, progressive sensorineural deafness and the development of secondary amyloidosis, but it is not considered the most severe disease of this group. Sensorineural deafness and amyloidosis are the two major complications of MWS and determine poor prognosis of the disease.
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PMID:[Syndrome of Muckle-Wells and autoinflammatory familiar syndrome induced by cold]. 2159 82


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